ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095148
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99143
ClinVar RCV Id:
RCV000085487
RCV000504877
RCV001075467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ala854Thr
CA227010
NM_000350.3:c.2560G>A